DNA repair-scaffolding protein

Definition:

Plays a role in DNA double-strand break (DBS) repair via homologous recombination (HR). Serves as a scaffolding protein that helps to promote the recruitment of DNA-processing enzymes like the helicase BLM and recombinase RAD51 to site of DNA damage, and hence contributes to maintain genomic integrity.

References:

[1]. Jingsong Yuan, et al. FIGNL1-containing protein complex is required for efficient homologous recombination repair. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10640-5. [Content Brief]

[2]. Li Wan, et al. Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. Proc Natl Acad Sci U S A. 2013 Jun 25;110(26):10646-51. [Content Brief]

[3]. Abdelkader Heddar, et al. A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. Clin Genet. 2022 Feb;101(2):242-246. [Content Brief]

[4]. Pola Smirin-Yosef, et al. A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. J Clin Endocrinol Metab. 2017 Feb 1;102(2):681-688. [Content Brief]

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